Details of Disease | DrugMAP

General Information of Disease (ID: DISO9AOZ)

Disease Name	Legius syndrome
Synonyms	neurofibromatosis type 1-like syndrome; neurofibromatosis type 1 like syndrome; NF1-like syndrome; neurofibromatosis 1-like syndrome; Legius syndrome
Definition	Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.
Disease Hierarchy	DISQ205R: Hyperpigmentation of the skin DISTATYK: Noonan syndrome and Noonan-related syndrome DIS7GG31: Developmental defect during embryogenesis DISSCALK: Hereditary skin disorder DISO9AOZ: Legius syndrome
Disease Identifiers	MONDO ID MONDO_0012669 MESH ID C548032 UMLS CUI C1969623 OMIM ID 611431 MedGen ID 370709 Orphanet ID 137605 SNOMED CT ID 703541007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PICALM	OTQVRPMQ	moderate	Biomarker	[1]
SNAP91	OTE3EXWZ	moderate	Biomarker	[1]
SPRED1	OTKX7P8G	Definitive	Autosomal dominant	[2]
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References

1	The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.Gen Physiol Biophys. 2017 Apr;36(2):205-210. doi: 10.4149/gpb_2016032. Epub 2017 Feb 2.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.